ClinVar Miner

List of variants reported as pathogenic for lipoic acid synthetase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006859.4(LIAS):c.100A>T (p.Lys34Ter) rs764858363 0.00001
NM_006859.4(LIAS):c.542A>T (p.Asp181Val) rs1553934355 0.00001
NM_006859.4(LIAS):c.645T>A (p.Asp215Glu) rs869312808 0.00001
NM_006859.4(LIAS):c.746G>A (p.Arg249His) rs144133667 0.00001
NM_006859.4(LIAS):c.107dup (p.Glu37fs)
NM_006859.4(LIAS):c.130del (p.Asp44fs)
NM_006859.4(LIAS):c.212del (p.Gly71fs) rs1417695501
NM_006859.4(LIAS):c.266dup (p.Asn89fs) rs1355425067
NM_006859.4(LIAS):c.277del (p.Lys92_Leu93insTer) rs1553934069
NM_006859.4(LIAS):c.280A>T (p.Lys94Ter)
NM_006859.4(LIAS):c.328C>T (p.Arg110Ter)
NM_006859.4(LIAS):c.363del (p.Glu122fs) rs1553934199
NM_006859.4(LIAS):c.367_389dup (p.Leu132fs)
NM_006859.4(LIAS):c.440dup (p.Thr148fs) rs1744706299
NM_006859.4(LIAS):c.475_477delinsAAA (p.Glu159Lys) rs869320760
NM_006859.4(LIAS):c.480del (p.Tyr161fs)
NM_006859.4(LIAS):c.520del (p.Tyr174fs) rs760569998
NM_006859.4(LIAS):c.649C>T (p.Arg217Ter) rs997841253
NM_006859.4(LIAS):c.64dup (p.Cys22fs) rs960319940
NM_006859.4(LIAS):c.664_665delinsTA (p.Ala222Ter) rs1744807781
NM_006859.4(LIAS):c.999dup (p.Val334fs) rs2109887859

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.